L47F (p.Leu47Phe) variant of ARID2 (Q68CP9)
L47F (p.Leu47Phe) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
L47F (p.Leu47Phe) variant details
- p.Leu47Phe
- gnomAD 12-45730090-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.77
- MetaLR 0.70
- MetaSVM 0.51
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available